Associated Papers
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Diallo M et al.
International Journal of Molecular Sciences, 2024
39201349 (PubMed )
Supplement: ijms-25-08657-s001.zip › Supplementary_Table_S2.xlsx › Table_S2_Supplementary
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
37882226 (PubMed )
Supplement: MGG3-12-e2297-s002.xlsx › Supplementary_Table_2
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.
Human Mutation, 2013
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM et al.
Investigative Ophthalmology & Visual Science, 2008
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
Select a paper to view details